ClinVar Miner

List of variants reported as pathogenic for spermatogenic failure by OMIM

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_031276.3(TEX11):c.405C>T (p.Ala135=) rs147088100 0.00245
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr) rs141903829 0.00192
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr) rs140984555 0.00183
NM_001101677.2(SOHLH1):c.346-1G>A rs140132974 0.00173
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter) rs199752008 0.00136
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) rs199671406 0.00096
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys) rs142724470 0.00075
NM_001366900.1(TTC21A):c.3095+5G>T rs148431487 0.00058
NM_031276.3(TEX11):c.466A>G (p.Met156Val) rs143246552 0.00053
NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys) rs151313083 0.00048
NM_152467.5(KLHL10):c.937G>A (p.Ala313Thr) rs370756367 0.00042
NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) rs368517882 0.00040
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn) rs140883175 0.00034
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) rs137853118 0.00032
NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln) rs140210148 0.00031
NM_173812.5(DPY19L2):c.869G>A (p.Arg290His) rs147579680 0.00023
NM_001321739.2(M1AP):c.797G>A (p.Arg266Gln) rs149272394 0.00020
NM_002440.4(MSH4):c.2198C>A (p.Ser733Ter) rs149042353 0.00018
NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter) rs369701921 0.00016
NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala) rs147356105 0.00016
NM_001131034.4(RNF212):c.111dup (p.Lys38Ter) rs768155534 0.00013
NM_001321739.2(M1AP):c.949G>A (p.Gly317Arg) rs140179344 0.00011
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter) rs140352254 0.00010
NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp) rs149561928 0.00009
NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr) rs369473998 0.00007
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) rs201095702 0.00007
NM_001136505.2(TERB1):c.1813C>T (p.Arg605Ter) rs963945421 0.00006
NM_001177949.2(SYCP3):c.657T>C (p.Thr219=) rs769825641 0.00006
NM_005390.5(PDHA2):c.679A>G (p.Met227Val) rs200969445 0.00006
NM_033364.4(CFAP91):c.124G>C (p.Asp42His) rs149348782 0.00006
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu) rs377712900 0.00005
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_198559.2(CATIP):c.103T>A (p.Phe35Ile) rs141560868 0.00005
NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter) rs763654373 0.00004
NM_005893.3(CCIN):c.853G>A (p.Gly285Ser) rs750854950 0.00004
NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs) rs779490893 0.00004
NM_031956.4(TTC29):c.330_334del (p.Glu111fs) rs766352190 0.00004
NM_206996.4(SPAG17):c.4343G>A (p.Arg1448Gln) rs752115449 0.00004
NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter) rs1004968910 0.00003
NM_001388453.1(QRICH2):c.3535C>T (p.Arg1179Ter) rs777214459 0.00003
NM_025145.7(CFAP43):c.4132C>T (p.Arg1378Ter) rs768831533 0.00003
NM_031272.5(TEX14):c.254G>T (p.Arg85Leu) rs761592042 0.00003
NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys) rs398123027 0.00003
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys) rs754130052 0.00003
NM_152448.3(TERB2):c.544dup (p.Met182fs) rs1218912028 0.00003
NM_173812.5(DPY19L2):c.1183del (p.Ser395fs) rs751879424 0.00003
NM_173812.5(DPY19L2):c.1218+1G>A rs868256749 0.00003
NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter) rs587777205 0.00003
NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter) rs756973049 0.00003
NM_207189.4(BRDT):c.2783G>A (p.Gly928Asp) rs754258809 0.00003
NM_001199165.4(CEP112):c.2104C>T (p.Arg702Cys) rs780421901 0.00002
NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs) rs754159168 0.00002
NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys) rs750057655 0.00002
NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His) rs533026166 0.00002
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) rs387906690 0.00002
NM_020877.5(DNAH2):c.11503T>C (p.Ser3835Pro) rs545849987 0.00002
NM_020877.5(DNAH2):c.6960C>A (p.Ser2320Arg) rs763882266 0.00002
NM_033123.4(PLCZ1):c.588C>A (p.Cys196Ter) rs535719220 0.00002
NM_144666.3(DNHD1):c.8909A>G (p.Tyr2970Cys) rs187626415 0.00002
NM_173812.5(DPY19L2):c.893G>A (p.Arg298His) rs752764341 0.00002
NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter) rs768989830 0.00001
NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter) rs1355278372 0.00001
NM_001143764.3(SYCE1):c.197-2A>G rs774225566 0.00001
NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs) rs780798708 0.00001
NM_001199165.4(CEP112):c.496C>T (p.Arg166Ter) rs143892062 0.00001
NM_001271718.2(SPINK2):c.206-3C>G rs577163578 0.00001
NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter) rs200629089 0.00001
NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg) rs1161498711 0.00001
NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter) rs751680143 0.00001
NM_001304548.2(CFAP47):c.5224A>G (p.Ser1742Gly) rs1214810484 0.00001
NM_001304548.2(CFAP47):c.8668C>A (p.Pro2890Thr) rs1317932026 0.00001
NM_001321739.2(M1AP):c.1166C>T (p.Pro389Leu) rs751126701 0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg) rs759073156 0.00001
NM_001378211.1(SHOC1):c.1386del (p.Leu464fs) rs779445148 0.00001
NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr) rs755742775 0.00001
NM_001388453.1(QRICH2):c.3999C>G (p.Tyr1333Ter) rs934388592 0.00001
NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser) rs1566411552 0.00001
NM_018995.3(MOV10L1):c.2542G>A (p.Gly848Arg) rs1278182234 0.00001
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys) rs773343805 0.00001
NM_024867.4(SPEF2):c.1745-2A>G rs1375975527 0.00001
NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter) rs1230916222 0.00001
NM_025145.7(CFAP43):c.253C>T (p.Arg85Trp) rs376788209 0.00001
NM_025145.7(CFAP43):c.3352C>T (p.Arg1118Ter) rs760609580 0.00001
NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter) rs759127010 0.00001
NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro) rs1220970427 0.00001
NM_080675.4(SUN5):c.824C>T (p.Thr275Met) rs756459525 0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys) rs1035842147 0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln) rs369544858 0.00001
NM_172166.4(MSH5):c.964C>T (p.Arg322Cys) rs753519199 0.00001
NM_173651.4(FSIP2):c.910del (p.Gln304fs) rs773975635 0.00001
NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys) rs587777206 0.00001
DNALI1, IVS3, G-A, -1
NC_000003.12:g.113358867_113358876del rs1553756374
NC_000012.12:g.(?_63558913)_(63669201_?)del
NC_000023.10:g.69954448_70045530del
NG_031909.1:g.(12232_26209)_(29173_47048)del
NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer) rs761844995
NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter) rs544826621
NM_001008723.2(CFAP58):c.2052del (p.His685fs) rs775625613
NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter) rs2013131818
NM_001015878.2(AURKC):c.145del (p.Leu49fs) rs397515619
NM_001015878.2(AURKC):c.436-2A>G rs397515484
NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr) rs121908654
NM_001029860.4(FBXO43):c.1991G>A (p.Gly664Asp) rs954702094
NM_001031705.3(CT55):c.465T>A (p.Tyr155Ter)
NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe)
NM_001031836.3(KCNU1):c.1295+3A>C
NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg)
NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs) rs764048407
NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter) rs1554359569
NM_001039706.3(CFAP69):c.860+1G>A rs1554359685
NM_001042697.2(ZSWIM7):c.201+1G>T rs2151625014
NM_001097.3(ACR):c.167G>A (p.Trp56Ter)
NM_001135217.2(LRRC23):c.376C>T (p.Arg126Ter)
NM_001135217.2(LRRC23):c.621+1G>A rs1555139812
NM_001136046.3(ZMYND15):c.1520_1523del (p.Lys507fs) rs587777432
NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter) rs2145104416
NM_001136505.2(TERB1):c.289_290del (p.Leu97fs) rs1308550551
NM_001145128.3(AK9):c.2005dup (p.Cys669fs)
NM_001145128.3(AK9):c.2444C>T (p.Pro815Leu)
NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)
NM_001145128.3(AK9):c.4872_4875dup (p.Cys1626fs)
NM_001145304.2(IQCN):c.2453_2454del (p.Gln818fs)
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)
NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)
NM_001163560.3(MEIOB):c.191A>T (p.Asn64Ile) rs1555472691
NM_001163560.3(MEIOB):c.528+3A>C
NM_001163560.3(MEIOB):c.683-1G>A
NM_001163560.3(MEIOB):c.814C>T (p.Arg272Ter)
NM_001163560.3(MEIOB):c.976G>A (p.Ala326Thr)
NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter) rs866096259
NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln) rs762760856
NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs) rs1553756824
NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter) rs1262272674
NM_001168221.2(C2CD6):c.338A>G (p.His113Arg) rs2105806061
NM_001177949.2(SYCP3):c.553-21_553-18del rs587776620
NM_001177949.2(SYCP3):c.643del (p.Ile215fs)
NM_001206927.2(DNAH8):c.380_381del (p.Lys127fs) rs1762922751
NM_001206927.2(DNAH8):c.6689A>G (p.Lys2230Arg) rs1563044711
NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs) rs752692263
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly) rs1254456989
NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser) rs2115028353
NM_001271862.2(PNLDC1):c.640-2A>T rs763048743
NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)
NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)
NM_001282717.2(STAG3):c.1936dup (p.Ala646fs) rs1251996684
NM_001282717.2(STAG3):c.2394+1G>A rs2117333857
NM_001282717.2(STAG3):c.962G>A (p.Arg321His) rs1031011371
NM_001286574.2(ARMC12):c.632G>A (p.Arg211Gln)
NM_001286574.2(ARMC12):c.635T>C (p.Leu212Pro)
NM_001286574.2(ARMC12):c.686G>A (p.Cys229Tyr)
NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn) rs1940460729
NM_001304548.2(CFAP47):c.[1337C>T;706G>A]
NM_001321739.2(M1AP):c.1435-1G>A rs1677697539
NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) rs864309485
NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter) rs1554492164
NM_001350162.2(TEX15):c.4189del (p.Ser1397fs) rs1554491783
NM_001352389.2(STK33):c.1235del (p.Thr412fs)
NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter) rs780431020
NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer) rs1559708295
NM_001366900.1(TTC21A):c.716+1G>A rs1559674534
NM_001367801.1(CFAP70):c.1723-1G>T rs1589391313
NM_001372106.1(DNAH10):c.12589del (p.Ser4197fs) rs2137700684
NM_001372106.1(DNAH10):c.7614dup (p.Glu2539fs) rs2136959456
NM_001378211.1(SHOC1):c.1656del (p.Asp553fs) rs2131436525
NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs) rs777595871
NM_001378211.1(SHOC1):c.989del (p.Leu330fs) rs2131520030
NM_001388453.1(QRICH2):c.5112C>G (p.Tyr1704Ter) rs770382841
NM_001388453.1(QRICH2):c.690G>A (p.Trp230Ter) rs1567790522
NM_002440.4(MSH4):c.1552C>T (p.Gln518Ter) rs2100570734
NM_002440.4(MSH4):c.1950G>A (p.Trp650Ter) rs149910287
NM_002440.4(MSH4):c.2179del (p.Asp727fs) rs2100581757
NM_002440.4(MSH4):c.2222_2225del (p.Lys741fs) rs1386320504
NM_002440.4(MSH4):c.805_812del (p.Val269fs) rs2100513927
NM_003462.5(DNALI1):c.666_669del (p.Ser222fs)
NM_003602.5(FKBP6):c.469-2A>T
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)
NM_003602.5(FKBP6):c.589-2A>G
NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)
NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)
NM_004654.4(USP9Y):c.773+3_773+6del rs778145751
NM_004959.4(NR5A1):c.[368G>C;386C>T]
NM_005431.2(XRCC2):c.41T>C (p.Leu14Pro) rs757140620
NM_005635.4(SSX1):c.*4+1G>A
NM_005635.4(SSX1):c.164A>G (p.Tyr55Cys)
NM_005635.4(SSX1):c.185_186del (p.Gly62fs)
NM_005640.3(TAF4B):c.1831C>T (p.Arg611Ter) rs587777427
NM_005893.3(CCIN):c.125A>T (p.His42Leu)
NM_005893.3(CCIN):c.1294C>T (p.Arg432Trp)
NM_005893.3(CCIN):c.1341C>A (p.Cys447Ter)
NM_005893.3(CCIN):c.230T>C (p.Leu77Pro)
NM_006687.4(ACTL7A):c.1084G>A (p.Gly362Arg)
NM_006687.4(ACTL7A):c.146C>G (p.Ser49Ter)
NM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter)
NM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr)
NM_006687.4(ACTL7A):c.737G>C (p.Gly246Ala)
NM_007009.3(ZPBP):c.931C>T (p.Gln311Ter) rs2128782038
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs) rs1600877766
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs) rs1600840291
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs) rs753462162
NM_015512.5(DNAH1):c.11788-1G>A rs1131692234
NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly) rs1131692251
NM_015512.5(DNAH1):c.8626-1G>A rs1131692250
NM_015585.4(CFAP61):c.143+5G>A
NM_015585.4(CFAP61):c.144-2A>G
NM_015585.4(CFAP61):c.1654C>T (p.Arg552Cys)
NM_015585.4(CFAP61):c.1666G>A (p.Gly556Arg)
NM_015585.4(CFAP61):c.2911G>A (p.Asp971Asn)
NM_015585.4(CFAP61):c.452_453del (p.Ile151fs)
NM_015585.4(CFAP61):c.847C>T (p.Arg283Ter)
NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser) rs1566684983
NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro) rs754106837
NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile) rs1479684172
NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs) rs2147023849
NM_020877.5(DNAH2):c.11500C>T (p.Arg3834Ter) rs369801878
NM_020877.5(DNAH2):c.9298C>T (p.Arg3100Trp) rs201414958
NM_020879.3(CCDC146):c.1084C>T (p.Arg362Ter)
NM_020879.3(CCDC146):c.2112del (p.Arg704fs)
NM_020937.4(FANCM):c.1946_1958del (p.Pro649fs) rs1555363275
NM_020937.4(FANCM):c.4387-10A>G rs1555365959
NM_024867.4(SPEF2):c.13del (p.Leu5fs) rs1391102782
NM_024867.4(SPEF2):c.2735del (p.Pro912fs) rs1580383744
NM_024867.4(SPEF2):c.3240del (p.Phe1080fs) rs1580529760
NM_024867.4(SPEF2):c.4326dup (p.Val1443fs) rs1580704451
NM_024867.4(SPEF2):c.4952del (p.Val1651fs) rs1580783651
NM_025103.4(IFT74):c.256G>A (p.Gly86Ser) rs2131525662
NM_025132.4(WDR19):c.3811A>G (p.Lys1271Glu) rs2109521864
NM_025145.7(CFAP43):c.1240_1241del (p.Val414fs) rs753300178
NM_025145.7(CFAP43):c.1302dup (p.Leu435fs) rs1554882484
NM_025145.7(CFAP43):c.2802T>A (p.Cys934Ter) rs373911488
NM_025145.7(CFAP43):c.3541-2A>C rs1554862953
NM_025145.7(CFAP43):c.3661-2del rs1554861288
NM_025145.7(CFAP43):c.386C>A (p.Ser129Tyr) rs1131692266
NM_025145.7(CFAP43):c.3945-263_4431+252del
NM_030771.2(CCDC34):c.731dup (p.Asn244fs)
NM_030771.2(CCDC34):c.799_817del (p.Glu267fs)
NM_030960.3(SPACA1):c.53G>A (p.Trp18Ter)
NM_031272.5(TEX14):c.2650_2660del (p.Ser884fs) rs1555568575
NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter) rs777263062
NM_031293.3(PMFBP1):c.2092del (p.Ala698fs) rs1567621034
NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs) rs772371753
NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)
NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)
NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)
NM_031907.3(USP26):c.2396A>G (p.Asn799Ser)
NM_031907.3(USP26):c.2473C>G (p.Arg825Gly)
NM_031956.4(TTC29):c.*334G>A rs1579486914
NM_031956.4(TTC29):c.1107C>G (p.Tyr369Ter) rs1489738488
NM_031956.4(TTC29):c.412_425del (p.Asp138fs) rs1579951018
NM_031956.4(TTC29):c.750C>A (p.Tyr250Ter) rs763399136
NM_031956.4(TTC29):c.977+1G>T rs1579787268
NM_032131.6(ARMC2):c.1023+1G>A rs1562372417
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) rs1562381747
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) rs1562435988
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) rs1562436860
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) rs1562332833
NM_033123.4(PLCZ1):c.1048T>C (p.Ser350Pro) rs1955655663
NM_033123.4(PLCZ1):c.1174+3A>C
NM_033123.4(PLCZ1):c.1274A>G (p.Asn425Ser)
NM_033123.4(PLCZ1):c.1358G>A (p.Gly453Asp)
NM_033123.4(PLCZ1):c.136-1G>C
NM_033123.4(PLCZ1):c.1465A>T (p.Ile489Phe) rs757326350
NM_033123.4(PLCZ1):c.736C>T (p.Leu246Phe) rs1956460756
NM_033364.4(CFAP91):c.682+1G>A rs147597066
NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter) rs2147729149
NM_052957.5(GCNA):c.1507del (p.Glu504fs) rs2147732931
NM_052957.5(GCNA):c.343del (p.Ala115fs) rs2147727146
NM_052957.5(GCNA):c.653_654delinsGC (p.Lys218Ser) rs2147728009
NM_052961.4(SLC26A8):c.1664del (p.Ile555fs) rs2127298549
NM_052961.4(SLC26A8):c.212G>T (p.Arg71Leu) rs116146081
NM_053054.4(CATSPER1):c.539dup (p.His182fs) rs193929390
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) rs193929391
NM_080675.4(SUN5):c.381del (p.Val128fs) rs781693813
NM_080675.4(SUN5):c.485T>A (p.Met162Lys) rs886041023
NM_080675.4(SUN5):c.781G>A (p.Val261Met) rs886041024
NM_080675.4(SUN5):c.851C>G (p.Ser284Ter) rs886041025
NM_080746.3(RPL10L):c.257A>C (p.His86Pro) rs1883886214
NM_144666.3(DNHD1):c.522_525del (p.Arg174fs) rs756886777
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter) rs61729699
NM_144668.6(CFAP251):c.123del (p.Asp42fs) rs749163856
NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs) rs1565912409
NM_144668.6(CFAP251):c.3007-4915_3338-930del
NM_144688.5(KASH5):c.-95-2_798+248del
NM_144688.5(KASH5):c.1271_1274del (p.Arg424fs)
NM_144688.5(KASH5):c.1604T>A (p.Leu535Gln)
NM_144688.5(KASH5):c.590T>C (p.Leu197Pro)
NM_144688.5(KASH5):c.981_982del (p.Arg327fs)
NM_145038.5(DRC1):c.1660C>T (p.Arg554Ter)
NM_145038.5(DRC1):c.238C>T (p.Arg80Ter)
NM_152327.5(AK7):c.2018T>G (p.Leu673Arg) rs116298211
NM_152448.3(TERB2):c.457_458del (p.Thr153fs) rs2141244939
NM_152467.5(KLHL10):c.1302+123_1302+126del rs534770865
NM_152657.4(GGN):c.1271del (p.Gly424fs) rs751658286
NM_152657.4(GGN):c.416_437del (p.Leu139fs) rs2145140504
NM_153046.3(TDRD9):c.720_723del (p.Ser241fs) rs765353898
NM_172166.4(MSH5):c.1857del (p.Ala620fs) rs1562249204
NM_172166.4(MSH5):c.75dup (p.Ser26fs) rs961633772
NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer) rs767723684
NM_173628.4(DNAH17):c.5408G>A (p.Cys1803Tyr) rs2146716548
NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr) rs1598595659
NM_173628.4(DNAH17):c.5707C>T (p.Arg1903Cys) rs775503600
NM_173628.4(DNAH17):c.7994_8012del (p.Gly2665fs) rs1598525781
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_173628.4(DNAH17):c.[11803C>T;6308C>T]
NM_173651.4(FSIP2):c.10823T>C (p.Leu3608Ser)
NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs) rs1559024613
NM_173651.4(FSIP2):c.16393_16396del (p.Asn5465fs) rs1559034750
NM_173651.4(FSIP2):c.17798C>T (p.Ser5933Phe)
NM_173651.4(FSIP2):c.18448G>A (p.Val6150Ile)
NM_173651.4(FSIP2):c.19981C>T (p.Arg6661Ter)
NM_173651.4(FSIP2):c.2282dup (p.Asn761fs) rs1559025141
NM_173651.4(FSIP2):c.5237AAG[1] (p.Glu1747del)
NM_173651.4(FSIP2):c.5480A>T (p.Asp1827Val)
NM_173651.4(FSIP2):c.9056T>C (p.Ile3019Thr)
NM_174978.3(C14orf39):c.1180-3C>G rs1891315296
NM_174978.3(C14orf39):c.204_205del (p.His68fs) rs1406759691
NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter) rs997282049
NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu) rs1478948010
NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu) rs532021673
NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter) rs34687433
NM_182911.4(TSGA10):c.211del rs1553482689
NM_194302.4(CFAP65):c.1580del (p.Leu527fs) rs1574628422
NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter) rs1457312523
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter) rs1269179049
NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln) rs1878524886
NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter) rs1877018344
NM_199461.2(NANOS1):c.[737G>A;826_827delinsTA]
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031
NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del) rs538539239
NM_201435.5(CCDC62):c.442C>T (p.Gln148Ter) rs1021793710

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